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A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature.

Neuropediatrics - 1 Apr 2023

Quental Rita, Sampaio Mafalda, Alonso Isabel, Quental Sofia, Leão Miguel, Sousa Raquel

Abstract excerpt

BACKGROUND: Biallelic pathogenic variants in AIMP1 gene cause hypomyelinating leukodystrophy type 3, a severe neurodegenerative disorder with early onset characterized by microcephaly, axial hypotonia, epilepsy, spasticity, and developmental delay. METHODS: Clinical exome sequence was performed on patient's DNA and Sanger sequencing was used to confirm the candidate variant. To better characterize the effect of...

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PMID: 36652953
DOI: 10.1055/s-0042-1760366

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